title: A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.
abstract: Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T > A (p.Y279N) mutation in exon 6 in two patients.
authors.affiliation: Department of Pediatric Neurology, Cukurova University Medical Faculty, Adana/Turkey.
authors.forename: Faruk
authors.initials: F
authors.lastname: Incecık
authors.forename: Ozlem M
authors.initials: OM
authors.lastname: Herguner
authors.forename: Wiliam B
authors.initials: WB
authors.lastname: Rizzo
authors.forename: Sakir
authors.initials: S
authors.lastname: Altunbasak
keywords: Ichthyosis; mental retardation; mutation; spastic diplegia